kaydins appt

Well today is the long awaited appt. with the neurologist and i found out finally why he is the way he is he has two of the same cromozones so everything makes sense now and she told me that he might have slight heart issues but we will find out shes having me set up appt. with the oncology, and the cardiology pediatrician so we can get more answers and i have to take him to the hospital for his eeg test on October 6th the Doctor made it clear its important she said she thinks he could possibly being having seizures like i thought cause of his staring off into space . I thanked her and i started to cry a little because i feel like Ive waited it feels like forever to get some kind of answers i kinda felt stupid for crying but i was kinda relieved to finally know whats wrong kev did some research and i guess were lucky to have got kaydin into therapy when we did cause alot of parents didnt have that advantage and there kids situation was worse by not getting the help they needed anyhow here is some info so people can know and i dont have to repeat myself to everyone.

Information about the Potocki-Lupski (dup17p11.2) Syndrome
Individuals with the genetic condition designated as dup(17)(p11.2p11.2) (OMIM# 610883), or dup 17p carry extra genetic information (known as a duplication) on the short arm of chromosome 17.
Each cell of the body should have 23 pairs of chromosomes (22 numbered chromosomes and one pair of sex chromosomes; XX for females and XY for males) that contain the complete genetic information (genome) for the individual. When the egg and sperm cells are formed, the pairs of chromosomes are separated in a process called meiosis, so that each egg or sperm contains only one copy of each chromosome. Errors that occur during this process can result in genomic imbalances such as missing or extra genetic material. These imbalances can cause genetic syndromes that are associated with a wide variety of clinical outcomes.
Many genetic syndromes that were first described on the basis of clinical findings were later found to be caused by genomic imbalances. New high-resolution laboratory tests—known as chromosome microarray analysis or CMA can now detect these genomic imbalances even when a particular syndrome is not suspected.
Two distinct conditions result from errors in meiotic recombination involving the short arm of chromosome 17. Smith-Magenis syndrome (SMS – OMIM #182290) is caused by a deletion, or loss of genetic material, on one copy of chromosome 17. This well-known syndrome is associated with developmental delay, mental retardation, congenital anomalies such as heart and kidney defects, and neurobehavioral abnormalities such as severe sleep disturbances and self-injurious behavior.
For every chromosomal deletion, there exists a reciprocal chromosomal duplication. Although the genomic mechanism for the deletion and duplication is the same, the clinical features of individuals are different. These duplication syndromes have their own distinct clinical features and should not be confused with the deletion syndromes.
Duplication of chromosome 17p11.2 – Potocki-Lupski syndrome (PTLS) (OMIM# 610883) is a newly recognized genetic condition with only a few dozen cases reported in the medical literature. Patients who have this duplication often have low muscle tone, poor feeding, and failure to thrive during infancy, and also present with delayed development of motor and verbal milestones. Many individuals who have PTLS have difficulty with articulation and language processing. In addition, patients may have behavioral characteristics similar to those seen in persons with autism or autism-spectrum disorders. Individuals with PTLS may have heart defects and sleep apnea. The facial features observed in PTLS are subtly similar between individuals but are not usually described as abnormal or striking by physicians.
While fewer than 50 persons with duplication 17p11.2 have been described in the medical literature, we know that this duplication is predicted to be observed in at least 1 in 20,000 individuals. Although PTLS is considered a “chromosomal” disorder, diagnosis is often missed on a routine chromosome analysis. Due to technological advances in cytogenetics, specifically the use of array comparative genomic hybridization (aCGH) for genetic diagnosis, microdeletions and microduplications can be detected with equal fidelity. Hundreds of chromosome segments can be analyzed at one time searching for chromosomal imbalances. We anticipate that many more individuals will be diagnosed with dup 17p11.2 as this testing is performed more routinely in persons with developmental delay, mental retardation, and/or autism spectrum disorder.